Tuesday, August 10, 1999

(Published in Metro Philadelphia and Metro Toronto in spring 2000).Kári Stefánsson, founder of deCode genetics.
Iceland is known for its fish and its storytelling, but the latest saga from this North Atlantic island involves genetics, genealogy, and a brilliant and hard-nosed Viking, Kári Stefánsson. Iceland’s uniquely homogeneous gene pool may speed-up the discovery of disease-causing genes, and change the face of modern healthcare. Stefánsson’s company - deCode genetics – has been licensed by the Icelandic government to build a national health database, which will house the medical records and DNA blood samples from just about every single Icelandic citizen.

The isolation, the climate and the rough, inhospitable nature of Iceland have always been the curse of this volcanic rock, ever since the first Vikings landed here in the 9th century. Today, Iceland is a modern nation of some 275,000 Viking descendants, living only a few hours by air from New York, Paris and London. The standard of living is high, and Icelanders are among the most “networked” people in the world, whether measured by Internet access, or by cellular phones per capita. Still, the isolation is there, especially for researchers and the highly educated, who often venture abroad for a few years, but usually find their way back home.

In Stefánsson’s case, his visit to the United States lasted twenty years, and he would probably have settled for his prestigious job as professor of neural science at the Harvard Medical School, if it weren’t for an idea: To blend modern biotechnology with Iceland’s pristine gene pool, rich genealogical tradition, and modern information technology, in order to accelerate the discovery of the genes that cause specific illnesses. He returned to Iceland in 1996, with $12 million in venture capital for a project that ignited the hope of a new industry -- and maybe a new future -- for Iceland. This was badly needed in a nation heavily dependent on more traditional fishing and metal processing industries. Where others saw isolation, he saw a unique resource in the global race to decode the secrets of the three-to-four billion parts of a genome – which make up the human genetic code.

One of the greatest promises of modern biotechnology is that it will improve healthcare dramatically, so that illnesses one day may be cured the way “bugs” are fixed in computer programs, i.e., by replacing faulty code with good code. The potential is mind-boggling, but before this becomes a reality, scientists need to “download” the genetic code from the human body, and then understand it. This is extremely difficult because of the enormous amount of information involved. And since the same disease can be explained by mutations (changes) in several genes, researchers are often led astray when trying to find the connection between illnesses and specific genes. The larger and more mixed the population is, the harder it is to find the right connections.

This is why Iceland is so attractive. Its entire population is descended from only a few hundred Norwegian refugees (and the Celtic women they brought along.) Over time the original gene pool was made even smaller due to a series of disasters, and the harsh living conditions on an island where only one percent of the land is arable. Sad as it was to the struggling Vikings, their demise makes gene discovery easier here than anywhere else in the world.

Aside from a genetically homogenous population, Iceland has had a nationalized healthcare system since 1915, and has long collected health data on its inhabitants. Add to this a rich, and living tradition of genealogy, which makes it possible for Icelanders to trace their ancestry back several hundred years. This was a tradition born of necessity, since the Icelandic method of naming is very confusing – children are not given their father’s last name, but the father’s first name plus the word “son” or “dottir”, depending on the gender of the child. Famous example: Erik the Red’s son was named Leif Eriksson (literally Erik’s son), and a daughter born to him would have the surname “Eriksdottir.” Since it is so difficult to track down your extended family, written genealogy is paramount to avoid inbreeding among this small population.

deCode genetic’s laboratories outsideReykjavik.

DeCode’s laboratories, located just outside Reykjavik, Iceland, are full of young researchers in white coats, who represent some of Iceland’s most talented (one third of the 300 people who work at deCode have a Ph.D.) They are busy extracting DNA from blood samples sent in by participating doctors and analyzing them using state-of-the-art machines, to create genetic “maps” for each chromosome.

So far, the researchers have received DNA samples from about 20,000 patients who volunteered to be part of the project, and add their genetic “fingerprints” to the heath database they are creating. This information will be then be compared against a huge genealogical database that deCode also built with the help of its 15 in-house genealogists, one which can trace the ancestral roots of just about every one of the 700,000 to 800,000 Icelanders who have ever lived.

Thordur Kristjansson, a programmer, demonstrates how he with a few clicks of the mouse, can track down an Icelander’s roots back to the 9th century - and as a bonus he tracks the lineage of Kári Stefánsson eight generations back to find that he is related to the current Prime Minister of Iceland. Even further back it is found that Stefánsson is related to the famous Icelandic Viking poet Egil Skallagrimson born in the town of Borg in the year 910. (When doing genetic mapping, all of the records in both these databases are encrypted for privacy protection, so that all the researchers can see are anonymous, numeric “tags”.)

While most genetic researchers are attempting to map the complete human genome, deCode is opting for a shortcut: “I can take 1,200 individuals with a certain disease and run it against our genealogical database. The result will be a map that shows exactly how they are related -- not only siblings and cousins -- but distant relatives. This is very important when you study complex diseases,” Stefánsson says.

Instead of a physician relying solely on an individual’s medical history when diagnosing, deCode proposes finding the genetic basis for a certain disease through family ancestry and the medical records of the extended family. In this way, you don’t need to understand the genetics of an illness when you start your search for a diagnosis. “You can get around it if you have a lot of knowledge about the population’s genes, the environment and illnesses. Then you can simply search for matching genes without any hypothesis. “That’s why I proposed a centralized health database,” he says. That is, you don’t need to know what you are looking for, just throw out a net to see what you catch. His current “fish pond” is too small however, why he would like every Icelander to be entered into the database.

It may still be too early to judge deCode’s success, but early indications look good.
“In recent months, Stefánsson’s gene sleuths have pinpointed the locations of disease genes at astounding speed,” Ingrid Wickelgren wrote in the January issue of Popular Science Magazine. Last year, deCode located the gene for osteoarthritis - a form of arthritis. This was the first breakthrough in a five-year joint project it has with LaRoche, which began in 1998. The Swiss pharmaceutical giant gave deCode the job of tracking up to 12 common diseases, and agreed to invest $200 million in the company.

The next chapter of Kári’s saga started on March 9, when Delaware registered deCode genetics announced that it has filed for an initial public offering (IPO) on Nasdaq. Coming on top of a spectacular boom for biotechnology stocks, it seems as if the company may have struck “gold”. But the goal is more than money: “We want …to be able to do genetic research in a more efficient manner, and to be able to create programs for decision support in health care,” says Kári Stefánsson, who admits that he is surprised doctors don’t use computers more often to diagnose patients.

A doctor’s medical knowledge is after all “incomplete, imperfect, and under constant decay,” while the “knowledge base of the profession is growing…and getting harder to handle,” says Stefánsson. “You can’t even withdraw five dollars from your bank account without software, but a doctor -- even in the best of institutions -- only uses his brain,” he adds.

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